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ITGAX c.247+129T>C
Variant ID: 16-31368178-T-C
NM_000887.3(
ITGAX
):c.247+129T>C
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs7190997
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Characterizing RNA Pseudouridylation by Convolutional Neural Networks.
Genomics, Proteomics & Bioinformatics
He, Xuan X; Zhang, Sai S; Zhang, Yanqing Y; Lei, Zhixin Z; Jiang, Tao T; Zeng, Jianyang J
Publication Date: 2021-10
Variant appearance in text: rs7190997
PubMed Link:
33631424
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
The Emerging Role of Complement Proteins as a Target for Therapy of IgA Nephropathy.
Frontiers In Immunology
Rizk, Dana V DV; Maillard, Nicolas N; Julian, Bruce A BA; Knoppova, Barbora B; Green, Todd J TJ; Novak, Jan J; Wyatt, Robert J RJ
Publication Date: 2019
Variant appearance in text: rs7190997
PubMed Link:
30941137
Variant Present in the following documents:
Main text
fimmu-10-00504.pdf
View BVdb publication page
Genomic approaches in the search for molecular biomarkers in chronic kidney disease.
Journal Of Translational Medicine
Cañadas-Garre, M M; Anderson, K K; McGoldrick, J J; Maxwell, A P AP; McKnight, A J AJ
Publication Date: 2018-10-25
Variant appearance in text: rs7190997
PubMed Link:
30359254
Variant Present in the following documents:
Main text
12967_2018_Article_1664.pdf
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: ITGAX: 247+129T>C; rs7190997
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
View BVdb publication page
Lessons from CKD-Related Genetic Association Studies-Moving Forward.
Clinical Journal Of The American Society Of Nephrology : Cjasn
Limou, Sophie S; Vince, Nicolas N; Parsa, Afshin A
Publication Date: 2018-01-06
Variant appearance in text: rs7190997
PubMed Link:
29242368
Variant Present in the following documents:
Main text
View BVdb publication page
What Genetics Tells Us About the Pathogenesis of IgA Nephropathy: The Role of Immune Factors and Infection.
Kidney International Reports
Zhang, Yue-Miao YM; Zhou, Xu-Jie XJ; Zhang, Hong H
Publication Date: 2017-05
Variant appearance in text: rs7190997
PubMed Link:
29142962
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Identification of new susceptibility loci for IgA nephropathy in Han Chinese.
Nature Communications
Li, Ming M; Foo, Jia-Nee JN; Wang, Jin-Quan JQ; Low, Hui-Qi HQ; Tang, Xue-Qing XQ; Toh, Kai-Yee KY; Yin, Pei-Ran PR; Khor, Chiea-Chuen CC; Goh, Yu-Fen YF; Irwan, Ishak D ID; Xu, Ri-Cong RC; Andiappan, Anand K AK; Bei, Jin-Xin JX; Rotzschke, Olaf O; Chen, Meng-Hua MH; Cheng, Ching-Yu CY; Sun, Liang-Dan LD; Jiang, Geng-Ru GR; Wong, Tien-Yin TY; Lin, Hong-Li HL; Aung, Tin T; Liao, Yun-Hua YH; Saw, Seang-Mei SM; Ye, Kun K; Ebstein, Richard P RP; Chen, Qin-Kai QK; Shi, Wei W; Chew, Soo-Hong SH; Chen, Jian J; Zhang, Fu-Ren FR; Li, Sheng-Ping SP; Xu, Gang G; Shyong Tai, E E; Wang, Li L; Chen, Nan N; Zhang, Xue-Jun XJ; Zeng, Yi-Xin YX; Zhang, Hong H; Liu, Zhi-Hong ZH; Yu, Xue-Qing XQ; Liu, Jian-Jun JJ
Publication Date: 2015-06-01
Variant appearance in text: rs7190997
PubMed Link:
26028593
Variant Present in the following documents:
Main text
ncomms8270-s1.pdf
ncomms8270.pdf
View BVdb publication page